The Genetic Landscape of Cutaneous Lupus Erythematosus.
DNA
RNA
apoptosis
cutaneous lupus erythematosus
fibrosis
genetic polymorphism
inflammation
microarray
Journal
Frontiers in medicine
ISSN: 2296-858X
Titre abrégé: Front Med (Lausanne)
Pays: Switzerland
ID NLM: 101648047
Informations de publication
Date de publication:
2022
2022
Historique:
received:
08
04
2022
accepted:
04
05
2022
entrez:
20
6
2022
pubmed:
21
6
2022
medline:
21
6
2022
Statut:
epublish
Résumé
Cutaneous lupus erythematosus (CLE) is an autoimmune connective tissue disease that can exist as a disease entity or within the context of systemic lupus erythematosus (SLE). Over the years, efforts to elucidate the genetic underpinnings of CLE and SLE have yielded a wealth of information. This review examines prior studies investigating the genetics of CLE at the DNA and RNA level and identifies future research areas. In this literature review, we examined the English language literature captured within the MEDLINE and Embase databases using pre-defined search terms. First, we surveyed studies investigating various DNA studies of CLE. We identified three predominant areas of focus in HLA profiling, complement deficiencies, and genetic polymorphisms. An increased frequency of HLA-B8 has been strongly linked to CLE. In addition, multiple genes responsible for mediating innate immune response, cell growth, apoptosis, and interferon response confer a higher risk of developing CLE, specifically TREX1 and SAMHD1. There was a strong association between C2 complement deficiency and CLE. Second, we reviewed literature studying aberrations in the transcriptomes of patients with CLE. We reviewed genetic aberrations initiated by environmental insults, and we examined the interplay of dysregulated inflammatory, apoptotic, and fibrotic pathways in the context of the pathomechanism of CLE. These current learnings will serve as the foundation for further advances in integrating personalized medicine into the care of patients with CLE.
Identifiants
pubmed: 35721085
doi: 10.3389/fmed.2022.916011
pmc: PMC9201079
doi:
Types de publication
Journal Article
Review
Langues
eng
Pagination
916011Informations de copyright
Copyright © 2022 Chen, Barber and Chong.
Déclaration de conflit d'intérêts
BC was an investigator for Daavlin Corporation, Biogen Incorporated, and Pfizer Incorporated and consultant for Bristol Meyers Squibb, EMD Serono, Horizon Therapeutics, and Biogen Incorporated. The remaining authors declare that the research was conducted in the absence of any commercial or financial relationships that could be construed as a potential conflict of interest.
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